Mutation Details for c.1678A>G

cDNA Name c.1678A>G 
Protein Name p.Arg560Gly 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name R560G 
Other Details This change has been detected by DGGE analysis and direct sequencing. The mutation creates a Mnl I restriction site 
Contributors T. Casals, MD. Ramos, J. Gimenez, M.Sanchez-Solis   2002-01-01
Institute CGMM-IRO, Barcelona, Spain ospital V. Arrixaca, Murcia, Spain 
Submitted Phenotype Details The patient (female, 1y 10m) was diagnosed by dehydration and PI at 4 months. She carries the 2789+5G->A mutation on the other allele. 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011